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Glycomics MS raw data Repository
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Repository for lectin-assisted multimodality data
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MIRAGE
3MC syndrome 2
Summary
- Definition
- A 3MC syndrome that has_material_basis_in autosomal recessive inheritance of homozygous mutation in the collectin subfamily member 11 gene (COLEC11) on chromosome 2p25.
- Super Class
- 3MC syndrome
External Links
- Disease Ontology
- DOID:0060576
Related Genes
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0005243 | Partial abdominal muscle agenesis |
| HP:0000175 | Cleft palate |
| HP:0000337 | Broad forehead |
| HP:0000007 | Autosomal recessive inheritance |
| HP:0000431 | Wide nasal bridge |
| HP:0000028 | Cryptorchidism |
| HP:0001263 | Global developmental delay |
| HP:0000204 | Cleft upper lip |
| HP:0003577 | Congenital onset |
| HP:0010759 | Prominence of the premaxilla |
